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Development of a Predictive Model for the Risk of Metastatic Disease in PPGLs, a Retrospective Cohort Study

Sponsor: Rigshospitalet, Denmark

Summary

Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system, some which can become metastatic. It is a very rare disease and the tumours are often detected late. Approximately 50 % of the tumours are caused by germline genetic variants screening programmes are recommended for patients and their family members; however, they are not yet well-targeted with respect to individual prognosis. In this study the investigatorscaim to characterize the genotype-phenotype associations in all Danish patients (n=400) diagnosed with PPGLs who have been followed in tertiary centres using medical records and national registries. To this end novel immunohistochemical, genetic, and epigenetic biomarkers in tumour tissues samples from biobank material (blood samples and tumour tissue) will be investigated to develop a comprehensive predictive algorithm for disease prognosis. The study will provide a clinical tool for an improved targeted screening program and subsequently prevention of disease development.

Official title: Development of a Comprehensive Predictive Model for Risk of Metastatic Disease in PPGLs Based on a Combination of Clinical, Biochemical, Genetic, and Pathoanatomical Characteristics a Retrospective National Cohort Study

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